autosomal recessive nonsyndromic deafness 79

Term ID

DOID:0110526

Synonyms

• autosomal recessive deafness 79
• DFNB79

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20170899

References

• ICD10CM:H90.3
• OMIM:613307

Ontology

Human Disease   ( DOID:0110526 )